부산대학교 도서관

Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M. ; Levy, Michael A. ; Kerkhof, Jennifer ; Bhai, Pratibha ; McConkey, Haley ; Jenkins, Zandra A. ; Williams, Ella M. ; Halliday, Benjamin J. ; Huisman, Sylvia A. ; Lauffer, Peter ; de Waard, Vivian ; Witteveen, Laura ; Banka, Siddharth ; Brady, Angela F. ; Hurst, Anna C.E. ; Kaiser, Frank J. ; Lacombe, Didier ; Martinez-Monseny, Antonio F. ; Fergelot, Patricia ; Monteiro, Fabíola P. ; Parenti, Ilaria ; Santos-Simarro, Fernando ; Simpson, Brittany N. ; Alders, Mariëlle ; Robertson, Stephen P. ; Sadikovic, Bekim ; Menke, Leonie A.

In Human Genetics and Genomics Advances 18 July 2024 5(3)

Li, Cindy ; Desai, Ankit K. ; Gupta, Punita ; Dempsey, Katherine ; Bhambhani, Vikas ; Hopkin, Robert J. ; Ficicioglu, Can ; Tanpaiboon, Pranoot ; Craigen, William J. ; Rosenberg, Amy S. ; Kishnani, Priya S.

In Genetics in Medicine May 2021 23(5):845-855

Wang, Julia ; Kim, Emily ; Dai, Honzheng ; Stefans, Vikki ; Vogel, Hannes ; Al Jasmi, Fatma ; Schrier Vergano, Samantha A. ; Castro, Diana ; Bernes, Saunder ; Bhambhani, Vikas ; Long, Catherine ; El-Hattab, Ayman W. ; Wong, Lee-Jun

In Molecular Genetics and Metabolism June 2018 124(2):124-130

Schoch, Kelly; McConkie-Rosell, Allyn; Walley, Nicole; Bhambhani, Vikas; Feyma, Timothy; Pizoli, Carolyn E.; Smith, Edward C.; Tan, Queenie K.-G.; Shashi, Vandana

Orphanet Journal of Rare Diseases. 9/4/2023, Vol. 18 Issue 1, p1-10. 10p.

Schoch, Kelly ; McConkie-Rosell, Allyn ; Walley, Nicole ; Bhambhani, Vikas ; Feyma, Timothy ; Smith, Edward ; Queenie Tan, Khoon Ghee ; Shashi, Vandana

In Genetics in Medicine Open 2023 1(1) Supplement

Cousin, Margot A.; Veale, Emma L.; Dsouza, Nikita R.; Tripathi, Swarnendu; Holden, Robyn G.; Arelin, Maria; Beek, Geoffrey; Bekheirnia, Mir Reza; Beygo, Jasmin; Bhambhani, Vikas; Bialer, Martin; Bigoni, Stefania; Boelman, Cyrus; Carmichael, Jenny; Courtin, Thomas; Cogne, Benjamin; Dabaj, Ivana; Doummar, Diane; Fazilleau, Laura; Ferlini, Alessandra

Genome Medicine. 6/13/2022, Vol. 14 Issue 1, p1-19. 19p.

Desai, Ankit K. ; Li, Cindy ; Gupta, Punita ; Dempsey, Katherine ; Bhambhani, Vikas ; Hopkin, Robert ; Ficicioglu, Can ; Tanpaiboon, Pranoot ; Craigen, William J. ; KIshnani, Priya S.

In Molecular Genetics and Metabolism February 2021 132(2):S33-S33

Cohen, Jennifer L. ; Desai, Ankit ; Li, Cindy ; Huggins, Erin ; Cooper, Gabrielle ; Bhambhani, Vikas ; Dempsey, Katherine ; Ficicioglu, Can ; Gupta, Punita ; Austin, Stephanie ; Kishnani, Priya S.

In Molecular Genetics and Metabolism February 2021 132(2):S26-S27

Naravane, Ameay V. ; Belin, Peter J. ; Bhambhani, Vikas ; Quiram, Polly A.

In Journal of AAPOS June 2020 24(3):186-188

Morimoto, Marie; Bhambhani, Vikas; Gazzaz, Nour; Davids, Mariska; Sathiyaseelan, Paalini; Macnamara, Ellen F.; Lange, Jennifer; Lehman, Anna; Zerfas, Patricia M.; Murphy, Jennifer L.; Acosta, Maria T.; Wang, Camille; Alderman, Emily; Undiagnosed Diseases Network; Adam, Margaret; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.

NPJ Genomic Medicine; 2/10/2023, Vol. 8 Issue 1, p1-16, 16p

Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Zamani M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Dorison N; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Centre, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Centre, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Alvi JR; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan.; Sultan T; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Leeuwen L; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Zifarelli G; CENTOGENE GmbH, Rostock, Germany.; Bauer P; CENTOGENE GmbH, Rostock, Germany.; d'Hardemare V; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Doummar D; AP-HP. Sorbonne Université, Service de Neuropédiatrie et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, FHU I2D2, Paris, France.; Roze E; Assistance Publique-Hôpitaux de Paris CHU Pitié-Salpêtrière DMU Neurosciences et Sorbonne Université, INSERM, CNRS, Institut du Cerveau, Paris, France.; Travaglini L; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy.; Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS, Bambino Gesù Children's Hospital of Rome, Rome, Italy.; Ojea Ponce N; Department of Statistics, Institut de Recerca Sant Joan de Déu Barcelona, Barcelona, Spain.; Zahraei SM; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Tamim A; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Ababneh F; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Morrow MM; GeneDx, Gaithersburg, Maryland, USA.; Curry C; Department of Pediatrics, Genetic Medicine, UCSF/Fresno, Fresno, California, USA.; Tam A; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Ruedy J; Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA.; Bhambhani V; Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA.; Veith R; Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA.; Strømme P; Division of Pediatrics and Adolescent Medicine, Oslo, University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada.; Burglen L; Centre de Référence Maladies Rares 'Malformations et Maladies Congénitales du Cervelet,' Hôpital Trousseau, APHP, Sorbonne University, Paris, France.; Département de Génétique, APHP, Sorbonne University, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR, Paris, France.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; Alshamsi, Aisha; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Martínez-González, Maria Jesús; Levandoski, Kristin; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael; Vogel, Marina; Abicht, Angela; Moutton, Sébastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim; Lochmüller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine; Keena, Beth; Skraban, Cara; Berger, Seth; Andrew, Erin; Rahimian, Elham; Morrow, Michelle; Wentzensen, Ingrid; Millan, Francisca; Henderson, Lindsay; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; Mcrae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James; Senderek, Jan; Christodoulou, John; Chung, Wendy; Goodchild, Rose; Offiah, Amaka; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza

Brain
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology, 146(8), pp. 3273-3288. Oxford University Press 10.1093/brain/awad039

Guerrini, Renzo; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Allmen, Gretchen Von; Cho, Megan T; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zöe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A; Bacino, Carlos A; Mignot, Cyril; Power, Lillian H; Harris, Catharine J; Marjanovic, Dragan

Brain: A Journal of Neurology. Aug2022, Vol. 145 Issue 8, p2687-2703. 17p.

Weisfeld-Adams, James D.; Mehta, Lakshmi; Rucker, Janet C.; Dembitzer, Francine R.; Szporn, Arnold; Lublin, Fred D.; Introne, Wendy J.; Bhambhani, Vikas; Chicka, Michael C.; Cho, Catherine

Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-7. 7p. 2 Color Photographs, 1 Diagram, 1 Graph.

Li, Dong; Ahrens‐Nicklas, Rebecca C.; Baker, Janice; Bhambhani, Vikas; Calhoun, Amy; Cohen, Julie S.; Deardorff, Matthew A.; Fernández‐Jaén, Alberto; Kamien, Benjamin; Jain, Mahim; Mckenzie, Fiona; Mintz, Mark; Motter, Constance; Niles, Kirsten; Ritter, Alyssa; Rogers, Curtis; Roifman, Maian; Townshend, Sharron; Ward‐Melver, Catherine; Schrier Vergano, Samantha A.

American Journal of Medical Genetics. Part A; Sep2020, Vol. 182 Issue 9, p2058-2067, 10p

Zarate, Yuri A.; Bosanko, Katherine A.; Caffrey, Aisling R.; Bernstein, Jonathan A.; Martin, Donna M.; Williams, Marc S.; Berry‐Kravis, Elizabeth M.; Mark, Paul R.; Manning, Melanie A.; Bhambhani, Vikas; Vargas, Marcelo; Seeley, Andrea H.; Estrada‐Veras, Juvianee I.; Dooren, Marieke F.; Schwab, Maria; Vanderver, Adeline; Melis, Daniela; Alsadah, Adnan; Sadler, Laurie; Esch, Hilde

Human Mutation; Aug2019, Vol. 40 Issue 8, p1013-1029, 17p

Bhambhani, Vikas, MD; Muenke, Maximilian, MD

American Family Physician. 89(1):37-43

Mattison, Kari A.; Butler, Kameryn M.; Inglis, George Andrew S.; Dayan, Oshrat; Boussidan, Hanna; Bhambhani, Vikas; Philbrook, Bryan; da Silva, Cristina; Alexander, John J.; Kanner, Baruch I.; Escayg, Andrew

Epilepsia (Series 4). Sep2018, Vol. 59 Issue 9, pe135-e141. 7p.

Introne, Wendy J.; Westbroek, Wendy; Groden, Catherine A.; Bhambhani, Vikas; Golas, Gretchen A.; Baker, Eva H.; Lehky, Tanya J.; Snow, Joseph; Ziegler, Shira G.; Malicdan, May Christine V.; Adams, David R.; Dorward, Heidi M.; Hess, Richard A.; Huizing, Marjan; Gahl, William A.; Toro, Camilo

Neurology. Feb 14, 2017 88(7):e57-e65

Hardies, Katia; Yiying Cai; Jardel, Claude; Jansen, Anna C.; Mian Cao; May, Patrick; Djémié, Tania; Le Camus, Caroline Hachon; Keymolen, Kathelijn; Deconinck, Tine; Bhambhani, Vikas; Long, Catherine; Sajan, Samin A.; Helbig, Katherine L.; Suls, Arvid; Balling, Rudi; Helbig, Ingo; De Jonghe, Peter; Depienne, Christel; De Camilli, Pietro

Brain: A Journal of Neurology. 9/1/2016, Vol. 139 Issue 9, p2420-2430. 11p.